A78A (p.Ala78Ala) variant of MLC1 (Membrane protein MLC1)
A78A (p.Ala78Ala) in MLC1 (Membrane protein MLC1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A78A (p.Ala78Ala) variant details
- p.Ala78Ala
- rs1690216301
- gnomAD 2-210298550-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.39
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available